Links from Gene
Items: 1 to 20 of 11958
1.
rs1491514170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 16:57539169
(GRCh38)
16:57573081
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57539164:ACACAC:ACAC
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAC=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491401346 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:57539165
(GRCh38)
16:57573078
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57539165:C:CC
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491318713 has merged into rs58690103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 16:57552040
(GRCh38)
16:57585952
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57552028:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.57552040_57552041del, NC_000016.10:g.57552041del, NC_000016.10:g.57552041dup, NC_000016.10:g.57552040_57552041dup, NC_000016.10:g.57552039_57552041dup, NC_000016.10:g.57552038_57552041dup, NC_000016.9:g.57585952_57585953del, NC_000016.9:g.57585953del, NC_000016.9:g.57585953dup, NC_000016.9:g.57585952_57585953dup, NC_000016.9:g.57585951_57585953dup, NC_000016.9:g.57585950_57585953dup
6.
rs1491317398 has merged into rs3030608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57543289
(GRCh38)
16:57577201
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57543278:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
NC_000016.10:g.57543289_57543300del, NC_000016.10:g.57543290_57543300del, NC_000016.10:g.57543291_57543300del, NC_000016.10:g.57543292_57543300del, NC_000016.10:g.57543293_57543300del, NC_000016.10:g.57543294_57543300del, NC_000016.10:g.57543295_57543300del, NC_000016.10:g.57543296_57543300del, NC_000016.10:g.57543297_57543300del, NC_000016.10:g.57543298_57543300del, NC_000016.10:g.57543299_57543300del, NC_000016.10:g.57543300del, NC_000016.10:g.57543300dup, NC_000016.10:g.57543299_57543300dup, NC_000016.10:g.57543298_57543300dup, NC_000016.10:g.57543297_57543300dup, NC_000016.10:g.57543296_57543300dup, NC_000016.10:g.57543295_57543300dup, NC_000016.10:g.57543294_57543300dup, NC_000016.10:g.57543293_57543300dup, NC_000016.10:g.57543292_57543300dup, NC_000016.10:g.57543291_57543300dup, NC_000016.10:g.57543290_57543300dup, NC_000016.10:g.57543289_57543300dup, NC_000016.10:g.57543286_57543300dup, NC_000016.10:g.57543283_57543300dup, NC_000016.10:g.57543300_57543301insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.57577201_57577212del, NC_000016.9:g.57577202_57577212del, NC_000016.9:g.57577203_57577212del, NC_000016.9:g.57577204_57577212del, NC_000016.9:g.57577205_57577212del, NC_000016.9:g.57577206_57577212del, NC_000016.9:g.57577207_57577212del, NC_000016.9:g.57577208_57577212del, NC_000016.9:g.57577209_57577212del, NC_000016.9:g.57577210_57577212del, NC_000016.9:g.57577211_57577212del, NC_000016.9:g.57577212del, NC_000016.9:g.57577212dup, NC_000016.9:g.57577211_57577212dup, NC_000016.9:g.57577210_57577212dup, NC_000016.9:g.57577209_57577212dup, NC_000016.9:g.57577208_57577212dup, NC_000016.9:g.57577207_57577212dup, NC_000016.9:g.57577206_57577212dup, NC_000016.9:g.57577205_57577212dup, NC_000016.9:g.57577204_57577212dup, NC_000016.9:g.57577203_57577212dup, NC_000016.9:g.57577202_57577212dup, NC_000016.9:g.57577201_57577212dup, NC_000016.9:g.57577198_57577212dup, NC_000016.9:g.57577195_57577212dup, NC_000016.9:g.57577212_57577213insTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1491208130 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:57573418
(GRCh38)
16:57607330
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57573414:AGAGA:AGA
- Gene:
- ADGRG5 (Varview), LOC105371291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0.000071/1
(
ALFA)
-=0.000026/3
(GnomAD)
- HGVS:
10.
rs1491174117 has merged into rs10564046 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57559023
(GRCh38)
16:57592935
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57559012:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTTT=0.000004/1
(TOPMED)
-=0.483227/2420
(1000Genomes)
- HGVS:
NC_000016.10:g.57559023_57559031del, NC_000016.10:g.57559025_57559031del, NC_000016.10:g.57559026_57559031del, NC_000016.10:g.57559027_57559031del, NC_000016.10:g.57559028_57559031del, NC_000016.10:g.57559029_57559031del, NC_000016.10:g.57559030_57559031del, NC_000016.10:g.57559031del, NC_000016.10:g.57559031dup, NC_000016.10:g.57559030_57559031dup, NC_000016.10:g.57559027_57559031dup, NC_000016.10:g.57559021_57559031dup, NC_000016.9:g.57592935_57592943del, NC_000016.9:g.57592937_57592943del, NC_000016.9:g.57592938_57592943del, NC_000016.9:g.57592939_57592943del, NC_000016.9:g.57592940_57592943del, NC_000016.9:g.57592941_57592943del, NC_000016.9:g.57592942_57592943del, NC_000016.9:g.57592943del, NC_000016.9:g.57592943dup, NC_000016.9:g.57592942_57592943dup, NC_000016.9:g.57592939_57592943dup, NC_000016.9:g.57592933_57592943dup
11.
rs1491173362 has merged into rs779320962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57527434
(GRCh38)
16:57561346
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57527418:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CCDC102A (Varview), ADGRG5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000016.10:g.57527434_57527436del, NC_000016.10:g.57527435_57527436del, NC_000016.10:g.57527436del, NC_000016.10:g.57527436dup, NC_000016.10:g.57527435_57527436dup, NC_000016.10:g.57527434_57527436dup, NC_000016.10:g.57527433_57527436dup, NC_000016.10:g.57527432_57527436dup, NC_000016.10:g.57527430_57527436dup, NC_000016.9:g.57561346_57561348del, NC_000016.9:g.57561347_57561348del, NC_000016.9:g.57561348del, NC_000016.9:g.57561348dup, NC_000016.9:g.57561347_57561348dup, NC_000016.9:g.57561346_57561348dup, NC_000016.9:g.57561345_57561348dup, NC_000016.9:g.57561344_57561348dup, NC_000016.9:g.57561342_57561348dup
12.
rs1491115910 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:57559012
(GRCh38)
16:57592924
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57559011:AT:
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000009/1
(GnomAD)
- HGVS:
13.
rs1491083928 has merged into rs35729717 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:57539467
(GRCh38)
16:57573379
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:57539454:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0./0
(KOREAN)
T=0.2056/88
(NorthernSweden)
- HGVS:
NC_000016.10:g.57539467_57539470del, NC_000016.10:g.57539468_57539470del, NC_000016.10:g.57539469_57539470del, NC_000016.10:g.57539470del, NC_000016.10:g.57539470dup, NC_000016.10:g.57539469_57539470dup, NC_000016.10:g.57539468_57539470dup, NC_000016.10:g.57539467_57539470dup, NC_000016.10:g.57539466_57539470dup, NC_000016.10:g.57539465_57539470dup, NC_000016.9:g.57573379_57573382del, NC_000016.9:g.57573380_57573382del, NC_000016.9:g.57573381_57573382del, NC_000016.9:g.57573382del, NC_000016.9:g.57573382dup, NC_000016.9:g.57573381_57573382dup, NC_000016.9:g.57573380_57573382dup, NC_000016.9:g.57573379_57573382dup, NC_000016.9:g.57573378_57573382dup, NC_000016.9:g.57573377_57573382dup
14.
rs1490988309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:57536131
(GRCh38)
16:57570043
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57536130:C:A
- Gene:
- CCDC102A (Varview), ADGRG5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490958035 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCC>-
[Show Flanks]
- Chromosome:
- 16:57536616
(GRCh38)
16:57570528
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57536608:CTCCTCCTCC:CTCCTCC
- Gene:
- CCDC102A (Varview), ADGRG5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCTCC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
16.
rs1490851835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:57560093
(GRCh38)
16:57594005
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57560092:T:G
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490820423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 16:57568442
(GRCh38)
16:57602354
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57568441:C:A,NC_000016.10:57568441:C:G,NC_000016.10:57568441:C:T
- Gene:
- ADGRG5 (Varview), LOC105371291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490728451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:57540278
(GRCh38)
16:57574190
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57540277:A:G
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490725725 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:57551086
(GRCh38)
16:57584998
(GRCh37)
- Canonical SPDI:
- NC_000016.10:57551085:G:A,NC_000016.10:57551085:G:T
- Gene:
- ADGRG5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: